rs20541 a variant in the IL13 gene

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs20541 is the catalogue number of one of them, in the IL13 gene. Which letters you carry there — one copy from each parent — is your genotype.

IL13 (interleukin 13): This gene encodes an immunoregulatory cytokine produced primarily by activated Th2 cells. This cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines.

Gene description from NCBI Gene

rs20541 is a C/T polymorphism on the interleukin 13 gene IL13 associated with IgE levels. rs20541 in...

From SNPedia

Why might it matter?

ClinVar records this variant as benign, meaning not known to cause disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

• Inherited susceptibility to asthma
• Allergic rhinitis, susceptibility to
• IL13-related disorder

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Do I have this variant?

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

What should I do next?

1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID

rs20541

Gene

IL13

Position (GRCh38)

chr5:132660271

Variant type

snv

Consequence

missense variant

ClinVar classification

Benign; risk factor

Genome-wide association studies (20)

How common the less frequent letter is

gnomAD ALL

78.6%

1kG AFR

81%

1kG ALL

73%

1kG AMR

38%

1kG EAS

64%

1kG EUR

20.7%

1kG SAS

72.8%

Sources

• dbSNP: rs20541 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: IL13
• Ensembl: IL13
• GWAS Catalog — association studies

Related

Other variants in IL13

• rs1800925

• The IL13 gene
• SNP explorer
• Gene directory
• Health conditions